Apert Syndrome News and Research

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3-D imaging of two different mouse models helps understand Apert Syndrome development

Three dimensional imaging of two different mouse models of Apert Syndrome shows that cranial deformation begins before birth and continues, worsening with time, according to a team of researchers who studied mice to better understand and treat the disorder in humans.

4 Mar 2014

Children with craniofacial disorders face numerous medical challenges beyond appearance

Children born with cleft lip, cleft palate and other craniofacial disorders face numerous medical challenges beyond appearance.

23 May 2012

Jumping elements in primates may have important consequences for studies of human genetic diseases

The density of transposable (jumping) elements between sex chromosomes in primates may have important consequences for the studies of human genetic diseases, say Penn State University researchers.

30 Apr 2010

Researchers develop new mouse model of VUR to study chronic kidney disease in children

Kidney damage associated with chronic reflux is the fourth leading cause of chronic kidney disease and is the most common cause of severe hypertension in children. Doctors and researchers at Nationwide Children's Hospital have developed a new mouse model of vesicoureteral reflux, a common childhood condition that can lead to chronic kidney disease in children.

7 Apr 2010

Discovery provides better understanding of craniosynostosis

Craniosynostosis develops in the womb and affects one in every 2500 live births. Bones in the skulls and face of sufferers fuse together prematurely causing a range of distressing developmental problems.

2 Mar 2009

Apert's syndrome - new discovery

In a cruel irony, testis cells carrying the mutation that causes Apert's syndrome are fitter than normal cells, even though children born from sperm derived from those cells are weakened by fused fingers, toes and skulls, a new study has found.

14 Jul 2008

New research findings on Apert's syndrome

Aperts syndrome is a condition caused by a mutation that produces fused fingers and toes, and alters cranial development in affected children.

28 Aug 2007

Human testes may act as mutation multipliers

The testes in humans may act as mutation multipliers that raise the odds of passing improved DNA to offspring - but that can also backfire by increasing the frequency of certain diseases.